IthaID: 1530
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Italian (Aγδβ)0 | HGVS Name: | NC_000011.10:g.5194458_5249516del |
| Hb Name: | N/A | Protein Info: | deletion of 55059 nts from the Aγ gene to β gene |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Lacerra G, Prezioso R, Musollino G, Piluso G, Mastrullo L, De Angioletti M, Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδβ)°-thalassemia., Eur. J. Haematol. , 90(3), 214-9, 2013
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-03-19 13:29:11 (Show full history)
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